Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 6 | 42966658 | splice acceptor variant | C/T | snv | 2.1E-05 |
|
0.700 | 1.000 | 4 | 1996 | 2015 | ||||||||
|
0.925 | 0.080 | 6 | 42966044 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2001 | 2016 | |||||||
|
0.882 | 0.080 | 6 | 42967450 | missense variant | C/T | snv | 2.7E-03 | 2.9E-03 |
|
0.700 | 1.000 | 3 | 2009 | 2015 | |||||||
|
0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 3 | 2004 | 2013 | |||||||
|
0.882 | 0.240 | 6 | 42965717 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 3 | 1999 | 2015 | |||||||
|
0.882 | 0.080 | 6 | 42969714 | frameshift variant | CCAGGCCT/- | delins | 8.0E-05 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | |||||||
|
1.000 | 0.080 | 6 | 42966796 | frameshift variant | C/- | delins | 2.0E-05 | 3.5E-05 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | |||||||
|
0.925 | 0.080 | 6 | 42978634 | frameshift variant | T/- | del | 1.0E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2004 | 2010 | |||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 6 | 42978640 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 1996 | 1996 | |||||||||
|
0.882 | 0.080 | 6 | 42965712 | stop gained | G/A | snv | 2.0E-05; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 6 | 42978840 | frameshift variant | C/- | delins | 1.8E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 6 | 42978336 | frameshift variant | CCAGTCCGTCAGCG/- | delins | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 6 | 42967411 | frameshift variant | A/- | del | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 6 | 42979018 | stop gained | C/A;T | snv | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 6 | 42974001 | splice donor variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 6 | 42966043 | splice donor variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 6 | 42964904 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 6 | 42965713 | frameshift variant | C/-;CC | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 6 | 42968872 | splice donor variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 6 | 42968987 | splice acceptor variant | T/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 6 | 42969802 | splice acceptor variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 6 | 42974874 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 6 | 42978267 | splice region variant | TGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 6 | 42978644 | frameshift variant | CT/- | delins |
|
0.700 | 0 |